Evidence map›Paper›PMID 31100039›Full record

ArticleOmics : a journal of integrative biology2019

Family-Based Next-Generation Sequencing Study Identifies an

Aravind K Bandari, Sunil Bhat, M V Archana, Sunita Yadavalli, Krishna Patel, Pavithra Rajagopalan, Anil K Madugundu, Manisha Madkaikar, Kavita Reddy, Babylakshmi Muthusamy and 1 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Omics : a journal of integrative biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 49% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. NovelCentral-European journal of immunology · 2024
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 5 institutions in 2 countries.

Aravind K Bandari1 Institute of Bioinformatics, Bangalore, India.
Sunil Bhat4 Pediatric Hematology, Oncology and Bone Marrow Transplant, Mazumdar Shaw Medical Center, Narayana Health City, Bangalore, India.
M V Archana4 Pediatric Hematology, Oncology and Bone Marrow Transplant, Mazumdar Shaw Medical Center, Narayana Health City, Bangalore, India.
Sunita Yadavalli1 Institute of Bioinformatics, Bangalore, India.
Krishna Patel1 Institute of Bioinformatics, Bangalore, India.
Pavithra Rajagopalan1 Institute of Bioinformatics, Bangalore, India.
Anil K Madugundu1 Institute of Bioinformatics, Bangalore, India.
Manisha Madkaikar8 National Institute of Immunohaematology, KEM Hospital Campus, Mumbai, India.
Kavita Reddy1 Institute of Bioinformatics, Bangalore, India.
Babylakshmi Muthusamy1 Institute of Bioinformatics, Bangalore, India.
Akhilesh Pandey3 Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Institute of Bioinformatics · INManipal Academy of Higher Education · INMayo Clinic · USNarayana Health · INAravind Eye Hospital · IN

Funding

Wellcome Trust
6 · The paper itself

Abstract

Primary immunodeficiencies (PIDs) are a rare and heterogeneous group of inherited genetic disorders that are characterized by an absent or impaired immune system. In this report, we describe the use of next-generation sequencing to investigate a male infant with clinical and immunological manifestations suggestive of a PID. Whole-exome sequencing of the infant along with his parents revealed a novel nucleotide variant (cytosine to adenine substitution at nucleotide position 252) in the coding region of the interleukin 2 receptor subunit gamma (

Indexed as

ExomeFemaleGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansInterleukin Receptor Common gamma SubunitMaleMutationPrimary Immunodeficiency DiseasesIL2RG protein, humanInterleukin Receptor Common gamma Subunitbone marrow transplantationgenetic defectsmolecular diagnosticsnewborn screeningnext-generation sequencingprimary immunodeficiency

Identifiers

PMID31100039
PMCPMC6534087
OpenAlexW2946240231

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.